Canonical Allele Identifier: CA1599884
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1298365
ClinVar RCV Id: RCV001726695
dbSNP Id: rs534671822
ExAC: 2:31754486 C / T
gnomAD v2: 2-31754486-C-T
gnomAD v3: 2-31529416-C-T
gnomAD v4: 2-31529416-C-T
MyVariant Identifiers: chr2:g.31754486C>T (hg19) chr2:g.31529416C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529416C>T , CM000664.2:g.31529416C>T GRCh38
NC_000002.11:g.31754486C>T , CM000664.1:g.31754486C>T GRCh37
NC_000002.10:g.31607990C>T NCBI36
NG_008365.1:g.56556G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.589G>A MANE Select ENSP00000477587.1:p.Glu197Lys
ENST00000622030.1:c.589G>A ENSP00000477587.1:p.Glu197Lys
NM_000348.3:c.589G>A NP_000339.2:p.Glu197Lys
XM_011533069.1:c.367G>A XP_011531371.1:p.Glu123Lys
XM_011533070.1:c.334G>A XP_011531372.1:p.Glu112Lys
XM_011533071.1:c.334G>A XP_011531373.1:p.Glu112Lys
XM_011533072.1:c.334G>A XP_011531374.1:p.Glu112Lys
XM_011533069.2:c.367G>A XP_011531371.1:p.Glu123Lys
XM_011533072.2:c.334G>A XP_011531374.1:p.Glu112Lys
NM_000348.4:c.589G>A MANE Select NP_000339.2:p.Glu197Lys
Search 100 bp 5'
Search 100 bp 3'